ISCA-37420-Loss

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ISCA-37420-Loss Region in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Green ISCA-37420-Loss Region in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features
Amber ISCA-37420-Loss Region in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Green ISCA-37420-Loss Region in Paediatric motor neuronopathies Level 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Green ISCA-37420-Loss Region in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Red ISCA-37420-Loss Region in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Red Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature